Optimizing genetics online resources for diverse readers

por Chang, Jiyoo, Penon-Portmann, Monica, Shieh, Joseph T.
Publicado 2019

Genetics Workforce: Distribution of Genetics Services and Challenges to Healthcare in California

por Penon-Portmann, Monica, Chang, Jiyoo, Cheng, Mira, Shieh, Joseph T.
Publicado 2020

Exome Sequencing Identifies a Novel SIN3A Variant in a Patient with Witteveen-Kolk Syndrome

por Penon-Portmann, Monica, Carlston, Colleen M., Martin, Pierre-Marie, Slavotinek, Anne
Publicado 2022

Wilson disease in Costa Rica: Pediatric phenotype and genotype characterization

por Penon‐Portmann, Monica, Lotz‐Esquivel, Stephanie, Chavez Carrera, Alejandra, Jiménez‐Hernández, Mildred, Alvarado‐Romero, Danny, Segura‐Cordero, Sharon, Rimolo‐Donadio, Fiorella, Hevia‐Urrutia, Francisco, Mora‐Guevara, Alfredo, Saborío‐Rocafort, Manuel, Jiménez‐Arguedas, Gabriela, Badilla‐Porras, Ramsés
Publicado 2020

Heterozygous nonsense variants in the ferritin heavy-chain gene FTH1 cause a neuroferritinopathy

por Shieh, Joseph T., Tintos-Hernandez, Jesus A., Murali, Chaya N., Penon-Portmann, Monica, Flores-Mendez, Marco, Santana, Adrian, Bulos, Joshua A., Du, Kang, Dupuis, Lucie, Damseh, Nadirah, Mendoza-Londoño, Roberto, Berera, Camilla, Lee, Julieann C., Phillips, Joanna J., Alves, César A.P.F., Dmochowski, Ivan J., Ortiz-González, Xilma R.
Publicado 2023

Heterozygous Nonsense Variants in the Ferritin Heavy Chain Gene FTH1 Cause a Novel Pediatric Neuroferritinopathy

por Shieh, Joseph T, Tintos-Hernández, Jesus A, Murali, Chaya N., Penon-Portmann, Monica, Flores-Mendez, Marco, Santana, Adrian, Bulos, Joshua A., Du, Kang, Dupuis, Lucie, Damseh, Nadirah, Mendoza-Londoño, Roberto, Berera, Camilla, Lee, Julieann C, Phillips, Joanna J, Alves, César A P F, Dmochowski, Ivan J, Ortiz-González, Xilma R
Publicado 2023

Application of full-genome analysis to diagnose rare monogenic disorders

por Shieh, Joseph T., Penon-Portmann, Monica, Wong, Karen H. Y., Levy-Sakin, Michal, Verghese, Michelle, Slavotinek, Anne, Gallagher, Renata C., Mendelsohn, Bryce A., Tenney, Jessica, Beleford, Daniah, Perry, Hazel, Chow, Stephen K., Sharo, Andrew G., Brenner, Steven E., Qi, Zhongxia, Yu, Jingwei, Klein, Ophir D., Martin, David, Kwok, Pui-Yan, Boffelli, Dario
Publicado 2021

Publisher Correction: Application of full-genome analysis to diagnose rare monogenic disorders

por Shieh, Joseph T., Penon-Portmann, Monica, Wong, Karen H. Y., Levy-Sakin, Michal, Verghese, Michelle, Slavotinek, Anne, Gallagher, Renata C., Mendelsohn, Bryce A., Tenney, Jessica, Beleford, Daniah, Perry, Hazel, Chow, Stephen K., Sharo, Andrew G., Brenner, Steven E., Qi, Zhongxia, Yu, Jingwei, Klein, Ophir D., Martin, David, Kwok, Pui-Yan, Boffelli, Dario
Publicado 2021